Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.N177Y
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AMPD1

NM_000036.3:p.N177Y

Associated Papers

Genomic instability and DNA replication defects in progeroid syndromes.

Burla R et al.

Nucleus (austin, Tex.), 2018

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Kosho T et al.

American Journal of Medical Genetics. Part A, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."